المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M, Pedersen, Miriam G, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T, Sully, Krystal, Murali, Chaya N, Burrage, Lindsay C, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, McNiven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Zeev, Bruria Ben, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R, Shi, Yun Stone, Kristensen, Anders S

المصدر: Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J-H , Ge , Y-H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N , Burrage ....

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/gainoffunction-and-lossoffunction-variants-in-gria3-lead-to-distinct-neurodevelopmental-phenotypes(2e407cc4-9236-4bb4-9432-c6e91bf172c4).html
https://doi.org/10.1093/brain/awad403
https://curis.ku.dk/ws/files/387070536/awad403_2_.pdf

المؤلفون: Thorpe, Erin, Duenas-Roque, Milagros, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Purizaca-Rosillo, Nelson, Rodriguez, Richard, Milla-Neyra, Karina, De La Torre-Hernandez, Carlos, Sarapura-Castro, Elison, Aima, Carolina Galarreta, Manassero-Morales, Gioconda, Chávez-Pasco, Giulliana, Celis-García, Luis, La Serna, Jorge, Taft, Ryan

المصدر: Genetics in Medicine Open ; volume 2, page 101530 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101530
https://api.elsevier.com/content/article/PII:S2949774424006769?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424006769?httpAccept=text/plain

المؤلفون: Bazalar-Montoya, Jeny, Rodriguez, Richard, Chávez-Pasco, Giulliana, Martínez-Esteban, Peggy, Rajkumar, Revathi, Kesari, Akanchha, Brown, Carolyn, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda

المصدر: Genetics in Medicine Open ; volume 2, page 101306 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101306
https://api.elsevier.com/content/article/PII:S2949774424004527?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424004527?httpAccept=text/plain

المؤلفون: Chávez-Pasco, Giulliana, Bazalar-Montoya, Jeny, Suarez, Cecilia Bonilla, Bluske, Krista, Strom, Samuel, Malhotra, Alka, Milewski, Becky, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda

المصدر: Genetics in Medicine Open ; volume 2, page 101262 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101262
https://api.elsevier.com/content/article/PII:S2949774424004084?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424004084?httpAccept=text/plain

المؤلفون: Sun, Jia-Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone

المصدر: PLOS Genetics. 17(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Animals, Cerebellum, Child, Preschool, Egg Proteins, Female, Gain of Function Mutation, Gene Expression, HEK293 Cells, Hippocampus, Humans, Membrane Proteins, Mice, Mice, Inbred ICR, Models, Molecular, Neurons, Primary Cell Culture, Protein Conformation, Receptors, AMPA, Sequence Alignment, Sequence Homology, Amino Acid, Spasms, Infantile, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1v56z4bn
https://escholarship.org/content/qt1v56z4bn/qt1v56z4bn.pdf

المؤلفون: Scocchia, Alicia, Wigby, Kristen M, Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I, Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S, Rajan, Vani, Perry, Denise L, Belmont, John W, Bentley, David R, Jones, Marilyn C, Taft, Ryan J

المصدر: npj Genomic Medicine. 4(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Human Genome, Genetic Testing, Genetics, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, Good Health and Well Being, ICSL Interpretation and Reporting Team

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3q15p0q1
https://escholarship.org/content/qt3q15p0q1/qt3q15p0q1.pdf

المؤلفون: Thomas, Brittany, Kesari, Akanchha, Lumaka, Aime, Cornejo-Olivas, Mario, Ward, David, Jayakar, Parul, Basel, Donald, Jones, Marilyn, Thorpe, Erin, Perry, Denise, Taft, Ryan

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100619 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100619
https://api.elsevier.com/content/article/PII:S2949774423006192?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423006192?httpAccept=text/plain

المؤلفون: Taft, Ryan, Thorpe, Erin, Belmont, John, Williams, Taylor, Shaw, Chad, Button, Jason, Ortega, Julia, Robinson, Keisha, Jones, Marilyn, Masser-Frye, Diane, Basel, Donald, Brown, Chester, Vaux, Keith, Lumaka, Aime, Sirchia, Fabio, Roque, Milagros Dueñas, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Urraca, Nora, Salguero, Alejandra, Wiafe, Samuel, Foster-Bonds, Romina, Royer, Erin, Gallas, Michelle, Magoulas, Pilar, Vanderver, Adeline, Shinawi, Marwan, Taylor, Alan, Fishler, Kristen, Henry, Duncan, Salyakina, Daria, Gibson, Kate, Lah, Melissa, Malhotra, Alka, Avecilla, James, Warren, Andrew, Perry, Denise, Arseneault, Max

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100464 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100464
https://api.elsevier.com/content/article/PII:S2949774423004648?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423004648?httpAccept=text/plain

المؤلفون: Thorpe, Erin M., Kalafatis, Michael, Xu, Yan

المساهمون: Cleveland State University

المصدر: Genes & Diseases ; volume 10, issue 6, page 2229-2232 ; ISSN 2352-3042

الاتاحة: http://dx.doi.org/10.1016/j.gendis.2023.02.022
https://api.elsevier.com/content/article/PII:S2352304223000740?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352304223000740?httpAccept=text/plain

المؤلفون: Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin

المصدر: Cell Genomics ; volume 3, issue 2, page 100258 ; ISSN 2666-979X

الاتاحة: http://dx.doi.org/10.1016/j.xgen.2023.100258
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/plain

المؤلفون: Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C, Campo, Miguel Del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M, Urraca, Nora, Bosfield, Kerri, Brown, Chester W, Lydigsen, Holly, Mroczkowski, Henry J, Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D, Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S, Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E, Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S, Perry, Denise L, Belmont, John, Taft, Ryan J

المساهمون: Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C, Campo, Miguel Del, Basel, Donald, Mccarrier, Julie, Keppen, Laura Davi, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M, Urraca, Nora, Bosfield, Kerri, Brown, Chester W, Lydigsen, Holly, Mroczkowski, Henry J, Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D, Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S, Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E, Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, Jame, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S, Perry, Denise L, Belmont, John, Taft, Ryan J

مصطلحات موضوعية: change of management, clinical genome testing, clinical utility, diagnostic equity, genetic testing, low- and middle-income, rare disease, rare genetic disease, whole-genome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/38843839; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11571/1499956

الاتاحة: https://hdl.handle.net/11571/1499956
https://doi.org/10.1016/j.ajhg.2024.05.006

المؤلفون: Chacaltana‐Vinas, Cesar, Ramirez‐Pajares, Patricia, Manrique‐Palomino, Alid, Clause, Amanda R., Chawla, Aditi, Thorpe, Erin, Taft, Ryan, Rivera‐Valdivia, Andrea, Sarapura‐Castro, Elison, Bazalar‐Montoya, Jeny, Cornejo‐Olivas, Mario

المصدر: Movement Disorders Clinical Practice ; volume 11, issue 6, page 746-748 ; ISSN 2330-1619 2330-1619

الاتاحة: http://dx.doi.org/10.1002/mdc3.14025

المؤلفون: Brown, Carolyn M., Amendola, Laura M., Chandrasekhar, Anjana, Hagelstrom, R. Tanner, Halter, Gillian, Kesari, Akanchha, Thorpe, Erin, Perry, Denise L., Taft, Ryan J., Coffey, Alison J.

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01575-1
https://www.nature.com/articles/s41431-024-01575-1.pdf
https://www.nature.com/articles/s41431-024-01575-1

المؤلفون: Sun, Jia Hui, Chen, Jiang, Valenzuela, Fernando Eduardo Ayala, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone

المصدر: Sun , J H , Chen , J , Valenzuela , F E A , Brown , C , Masser-Frye , D , Jones , M , Romero , L P , Rinaldi , B , Li , W L , Li , Q Q , Wu , D , Gerard , B , Thorpe , E , Bayat , A & Shi , Y S 2021 , ' X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 ' , PLOS Genetics , vol. 17 , no. 6 , e1009608 . https://doi.org/10.1371/journal.pgen.1009608

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/c92262ea-135f-45a1-8fe2-bd5db1119580

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/c92262ea-135f-45a1-8fe2-bd5db1119580
https://doi.org/10.1371/journal.pgen.1009608
https://findresearcher.sdu.dk/ws/files/184130835/Open_Access_Version.pdf

المؤلفون: Chandrasekhar, Anjana, Mroczkowski, Henry J., Urraca, Nora, Gross, Andrew, Bluske, Krista, Thorpe, Erin, Hagelstrom, R. Tanner, Schonberg, Steven A., Perry, Denise L., Taft, Ryan J., Kesari, Akanchha

المصدر: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-6, 6p

المؤلفون: Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.

المصدر: Genetics in Medicine ; volume 21, issue 5, page 1121-1130 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0295-y
http://www.nature.com/articles/s41436-018-0295-y.pdf
http://www.nature.com/articles/s41436-018-0295-y
https://api.elsevier.com/content/article/PII:S1098360021014714?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021014714?httpAccept=text/plain

المؤلفون: Chandrasekhar, Anjana, Mroczkowski, Henry J., Urraca, Nora, Gross, Andrew, Bluske, Krista, Thorpe, Erin, Hagelstrom, R. Tanner, Schonberg, Steven A., Perry, Denise L., Taft, Ryan J., Kesari, Akanchha

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 3 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63462
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63462

المؤلفون: Keehan, Laura, Haviland, Isabel, Gofin, Yoel, Swanson, Lindsay C., El Achkar, Christelle Moufawad, Schreiber, John, VanNoy, Grace E., O'Heir, Emily, O'Donnell‐Luria, Anne, Lewis, Richard Alan, Magoulas, Pilar, Tran, Alyssa, Azamian, Mahshid S., Chao, Hsiao‐Tuan, Pham, Lisa, Samaco, Rodney C., Elsea, Sarah, Thorpe, Erin, Kesari, Akanchha, Perry, Denise, Lee, Brendan, Lalani, Seema R., Rosenfeld, Jill A., Olson, Heather E., Burrage, Lindsay C.

المساهمون: Chan Zuckerberg Initiative, Child Neurology Foundation, International Foundation for CDKL5 Research, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Eye Institute, National Human Genome Research Institute, Burroughs Wellcome Fund

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 12, page 3516-3524 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62940
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62940
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62940

المؤلفون: Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan

المصدر: Molecular Genetics and Metabolism ; volume 132, page S153 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00323-1
https://api.elsevier.com/content/article/PII:S1096719221003231?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221003231?httpAccept=text/plain

المؤلفون: Brown, Carolyn, Chandrasekhar, Anjana, Coffey, Alison, Perry, Denise, Taft, Ryan, Thorpe, Erin, Hagelstrom, R. Tanner

المصدر: Molecular Genetics and Metabolism ; volume 132, page S218-S219 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00423-6
https://api.elsevier.com/content/article/PII:S1096719221004236?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221004236?httpAccept=text/plain